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Aliases for RAPGEF1 Gene

Aliases for RAPGEF1 Gene

  • Rap Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • GRF2 3 4 6
  • Guanine Nucleotide-Releasing Factor 2 (Specific For Crk Proto-Oncogene) 2 3
  • CRK SH3-Binding GNRP 3 4
  • C3G 3 6
  • Rap Guanine Nucleotide Exchange Factor 1 3
  • Guanine Nucleotide-Releasing Factor 2 4
  • Protein C3G 4

External Ids for RAPGEF1 Gene

Previous HGNC Symbols for RAPGEF1 Gene

  • GRF2

Previous GeneCards Identifiers for RAPGEF1 Gene

  • GC09M129729
  • GC09M131481
  • GC09M133441
  • GC09M134452
  • GC09M103946

Summaries for RAPGEF1 Gene

Entrez Gene Summary for RAPGEF1 Gene

  • This gene encodes a human guanine nucleotide exchange factor. It transduces signals from CRK by binding the SH3 domain of CRK, and activating several members of the Ras family of GTPases. This signaling cascade that may be involved in apoptosis, integrin-mediated signal transduction, and cell transformation. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAPGEF1 Gene

RAPGEF1 (Rap Guanine Nucleotide Exchange Factor (GEF) 1) is a Protein Coding gene. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include SH3 domain binding and Rap guanyl-nucleotide exchange factor activity. An important paralog of this gene is RALGDS.

UniProtKB/Swiss-Prot for RAPGEF1 Gene

  • Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.

Gene Wiki entry for RAPGEF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RAPGEF1 Gene

Genomics for RAPGEF1 Gene

Regulatory Elements for RAPGEF1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RAPGEF1 Gene

Start:
131,576,770 bp from pter
End:
131,740,074 bp from pter
Size:
163,305 bases
Orientation:
Minus strand

Genomic View for RAPGEF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RAPGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAPGEF1 Gene

Proteins for RAPGEF1 Gene

  • Protein details for RAPGEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13905-RPGF1_HUMAN
    Recommended name:
    Rap guanine nucleotide exchange factor 1
    Protein Accession:
    Q13905
    Secondary Accessions:
    • Q5JUE4
    • Q68DL3
    • Q8IV73

    Protein attributes for RAPGEF1 Gene

    Size:
    1077 amino acids
    Molecular mass:
    120548 Da
    Quaternary structure:
    • Interacts with CRK via its SH3-binding sites.

    Alternative splice isoforms for RAPGEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAPGEF1 Gene

Proteomics data for RAPGEF1 Gene at MOPED

Post-translational modifications for RAPGEF1 Gene

  • Phosphorylation at Tyr-504 enhances activity as Rap guanine nucleotide exchange factor.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAPGEF1 Gene

Antibody Products

No data available for DME Specific Peptides for RAPGEF1 Gene

Domains for RAPGEF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q13905

UniProtKB/Swiss-Prot:

RPGF1_HUMAN :
  • Q13905
Domain:
  • Contains 1 N-terminal Ras-GEF domain.
  • Contains 1 Ras-GEF domain.
genes like me logo Genes that share domains with RAPGEF1: view

No data available for Gene Families for RAPGEF1 Gene

Function for RAPGEF1 Gene

Molecular function for RAPGEF1 Gene

UniProtKB/Swiss-Prot Function: Guanine nucleotide-releasing protein that binds to SH3 domain of CRK and GRB2/ASH. Transduces signals from CRK to activate RAS. Plays a role in the establishment of basal endothelial barrier function. Plays a role in nerve growth factor (NGF)-induced sustained activation of Rap1 and neurite outgrowth.

Gene Ontology (GO) - Molecular Function for RAPGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity --
GO:0005515 protein binding IPI 16443220
GO:0017034 Rap guanyl-nucleotide exchange factor activity IMP 21840392
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with RAPGEF1: view
genes like me logo Genes that share phenotypes with RAPGEF1: view

Animal Models for RAPGEF1 Gene

MGI Knock Outs for RAPGEF1:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAPGEF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RAPGEF1 Gene

Localization for RAPGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAPGEF1 Gene

Early endosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RAPGEF1 Gene COMPARTMENTS Subcellular localization image for RAPGEF1 gene
Compartment Confidence
cytosol 4
endosome 4
nucleus 3
plasma membrane 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RAPGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005768 endosome TAS --
GO:0005769 early endosome IDA 17724123
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RAPGEF1: view

Pathways for RAPGEF1 Gene

genes like me logo Genes that share pathways with RAPGEF1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for RAPGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000186 activation of MAPKK activity TAS --
GO:0001568 blood vessel development IEA --
GO:0007165 signal transduction NAS 7512734
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 7512734
GO:0007264 small GTPase mediated signal transduction --
genes like me logo Genes that share ontologies with RAPGEF1: view

Transcripts for RAPGEF1 Gene

Unigene Clusters for RAPGEF1 Gene

Rap guanine nucleotide exchange factor (GEF) 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RAPGEF1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RAPGEF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAPGEF1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - -
SP5:
SP6:
SP7:
SP8:

ExUns: 20b ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for RAPGEF1 Gene

GeneLoc Exon Structure for
RAPGEF1
ECgene alternative splicing isoforms for
RAPGEF1

Expression for RAPGEF1 Gene

mRNA expression in normal human tissues for RAPGEF1 Gene

mRNA differential expression in normal tissues according to GTEx for RAPGEF1 Gene

This gene is overexpressed in Muscle - Skeletal (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for RAPGEF1 Gene

SOURCE GeneReport for Unigene cluster for RAPGEF1 Gene Hs.127897

mRNA Expression by UniProt/SwissProt for RAPGEF1 Gene

Q13905-RPGF1_HUMAN
Tissue specificity: Ubiquitously expressed in adult and fetus. Expression is high in adult skeletal muscle and placenta and in fetal brain and heart. Low levels of expression in adult and fetal liver
genes like me logo Genes that share expressions with RAPGEF1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for RAPGEF1 Gene

Orthologs for RAPGEF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RAPGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAPGEF1 35
  • 99.45 (n)
  • 99.54 (a)
RAPGEF1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RAPGEF1 35
  • 89 (n)
  • 92.96 (a)
RAPGEF1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RAPGEF1 35
  • 90.28 (n)
  • 93.89 (a)
RAPGEF1 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rapgef1 35
  • 87.13 (n)
  • 92.73 (a)
Rapgef1 16
Rapgef1 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAPGEF1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAPGEF1 36
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rapgef1 35
  • 87.6 (n)
  • 92.36 (a)
chicken
(Gallus gallus)
Aves RAPGEF1 35
  • 80.09 (n)
  • 87.25 (a)
RAPGEF1 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAPGEF1 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rapgef1 35
  • 74.26 (n)
  • 81.04 (a)
Str.2075 35
zebrafish
(Danio rerio)
Actinopterygii rapgef1a 35
  • 69.18 (n)
  • 74.75 (a)
rapgef1a 36
  • 67 (a)
OneToMany
rapgef1b 36
  • 68 (a)
OneToMany
zgc56372 35
fruit fly
(Drosophila melanogaster)
Insecta C3G 36
  • 26 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.4 36
  • 31 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDC25 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 72 (a)
OneToOne
Species with no ortholog for RAPGEF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RAPGEF1 Gene

ENSEMBL:
Gene Tree for RAPGEF1 (if available)
TreeFam:
Gene Tree for RAPGEF1 (if available)

Paralogs for RAPGEF1 Gene

Paralogs for RAPGEF1 Gene

genes like me logo Genes that share paralogs with RAPGEF1: view

Variants for RAPGEF1 Gene

Sequence variations from dbSNP and Humsavar for RAPGEF1 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs1772 -- 131,663,576(+) TGGAC(A/G)TTGAC intron-variant
rs2076 -- 131,676,646(+) CACTA(C/T)CATAG intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs6879 -- 131,576,983(-) GGTGT(A/G)GGGGG utr-variant-3-prime
rs729959 -- 131,676,257(-) GGTGC(A/G)CTGGG intron-variant
rs733530 -- 131,594,271(-) CTGTC(A/T)CAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RAPGEF1 Gene

Variant ID Type Subtype PubMed ID
dgv2424e1 CNV Complex 17122850
nsv831742 CNV Loss 17160897
nsv894005 CNV Loss 21882294
nsv894006 CNV Gain 21882294
dgv8317n71 CNV Loss 21882294
nsv518141 CNV Gain 19592680
esv2671200 CNV Deletion 23128226
esv2739122 CNV Deletion 23290073
nsv6738 CNV Insertion 18451855
esv2739123 CNV Deletion 23290073
esv2739124 CNV Deletion 23290073
esv271588 CNV Insertion 20981092

Relevant External Links for RAPGEF1 Gene

HapMap Linkage Disequilibrium report
RAPGEF1
Human Gene Mutation Database (HGMD)
RAPGEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAPGEF1 Gene

Disorders for RAPGEF1 Gene

Relevant External Links for RAPGEF1

Genetic Association Database (GAD)
RAPGEF1
Human Genome Epidemiology (HuGE) Navigator
RAPGEF1
genes like me logo Genes that share disorders with RAPGEF1: view

No data available for UniProtKB/Swiss-Prot for RAPGEF1 Gene

Publications for RAPGEF1 Gene

  1. RAPGEF1 gene variants associated with type 2 diabetes in the Korean population. (PMID: 19297053) Hong K.W. … Oh B. (Diabetes Res. Clin. Pract. 2009) 3 23 48
  2. C3G, a guanine nucleotide-releasing protein expressed ubiquitously, binds to the Src homology 3 domains of CRK and GRB2/ASH proteins. (PMID: 7512734) Tanaka S. … Matsuda M. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4
  3. Rap1-PDZ-GEF1 interacts with a neurotrophin receptor at late endosomes, leading to sustained activation of Rap1 and ERK and neurite outgrowth. (PMID: 17724123) Hisata S. … Takai Y. (J. Cell Biol. 2007) 3 4
  4. Physical and functional interaction between Hck tyrosine kinase and guanine nucleotide exchange factor C3G results in apoptosis, which is independent of C3G catalytic domain. (PMID: 14551197) Shivakrupa R. … Swarup G. (J. Biol. Chem. 2003) 3 4
  5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 48

Products for RAPGEF1 Gene

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